摘要
目的探索幼年型粒单核细胞白血病(JMML)的早期临床、实验室特点,以提高诊断水平和治疗的有效性。方法分析17例JMML患儿的临床特征、外周血常规、单核细胞计数、血涂片,骨髓活检和/或骨髓穿刺的形态学和分子生物学,胎儿血红蛋白(HbF)和病毒抗原检测,诊断及治疗问题。结果17例患儿的年龄分布:2个月～5岁4个月,中位年龄14个月。临床表现:88.2%出现发热、面色苍白、咳嗽,76.5%胸片示支气管肺炎,皮肤出现丘疹58.8%,所有病例肝脾均肿大,其中≥5 cm者占52.9%,淋巴结肿大(浅表和深部)占82.4%。实验室:17例患儿外周血白细胞数中位值32.9×109/L、单核细胞绝对值中位值3.9×109/L,14/17例外周血涂片见髓系前体细胞,中位值28%,7例红系有病态造血,血红蛋白中位值88 g/L,血小板计数中位值33×109/L。骨髓活检和/或骨髓穿刺:原始、早幼粒/原幼单细胞数在5%～20%;14例作骨髓细胞免疫学检测,12例的免疫表型为MPO+、CD117+及其他的髓系标记,2例免疫表型为MPO-、CD14+、CD33+;14例进行细胞遗传分析,其中4例染色体单体改变依次为-8,+8q+、-6,+6q+、-20、-8;分子生物学检测bcr-abl基因阴性。HbF增高(中位值33%),病毒学检测EBV-IgM阳性7例、CMV-IgM阳性6例。结论JMML发病年龄以2岁以内多见,占60%。最初的诊断可类似ITP、病毒感染。JMML有效治疗很少,在缺乏相合供体情况下可选择联合化疗和诱导分化治疗。
Objectives To explore the early clinical and laboratory features of juvenile myelomonocytic leukemia （JMML） to improve accuracy of diagnosis and efficacy of treatment. Methods Seventeen （17） JMML patients were analyzed regarding their clinical features, routine blood test, monocyte count, peripheral blood smear; morphology and molecular biology of bone marrow biopsy and/or aspiration; fetal hemoglobin, virus antigens, accuracy of diagnosis and treatment. Results The age of patients ranges from 2 to 64 months with median of 14 months. In the course of disease, 88.2% of patients had fever, pallor and cough ; 76.5% had bronchial pneumonia; 58.8% had skin rash. Liver and spleen can be palpated in all patients, 52.9% of them with the both organs palpable larger than 5 cm off the coastal of the rib; and 85.7% of patients had enlarged lymph nodes. The median of white blood cell count was 32.9×10^9/L and absolute monocyte count was 3.9 ×10^9/L. Premyeloblast （medium count 28%） was found in 14 out of 17 patients, 7 had abnormal erythropoiesis; the median hemoglobin was 88 g/L and platelet 33×10^9/L. All had bone marrow biopsy and/or aspiration and the counts of myeloblast, premyelocyte and monoblast ranged from 5% to 20%. Twelve of 14 patients expressed MPO^＋, CD14^＋, CD33^＋, while 2 with MPO^-, CD14^＋, CD33^＋. Cytogenetic analysis showed that 4 out of 14 had chromatid change as -8, ＋8q＋, -6, ＋6q＋. -20, -8. BCR/ABL gene was negative in biological examination. Fetal hemoglobin increased with median of 33%; The EBV-IgM and CMV-IgM were positive in 7 and 6 patients, respectively. Conclusions JMML is common in patients younger than 2 years old. JMML needs to be differentiated from idiopathic thrombopenic purpura and virus infection. There is not much effective treatment for JMML. Combined chemotherapy and differentiation induction might be chosen as a treatment while lacking of matching donors.
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2007年第8期648-650,654,共4页
Journal of Clinical Pediatrics
关键词
幼年型粒单核细胞白血病
临床
诊断
治疗
juvenile myelomonocytic leukemia
clinical feature
diagnosis
treatment
